Objective: To determine the prevalence of poor sleep quality in HD mutation carriers and to characterize objective sleep parameters.

Background: HD is a progressive neurodegenerative disorder caused by CAG expansion in the HTT gene and commonly associated with non-motor symptoms, including sleep disturbances.

Method: In this cross-sectional study, 38 HD mutation carriers (8 asymptomatic, 30 early-stage) and 80 matched healthy controls were included. All participants completed sleep questionnaires, including Pittsburgh Sleep Quality Index (PSQI), Epworth Sleepiness Scale (ESS), RBD Screening Questionnaire (RBDSQ), and Parkinson’s Disease Sleep Scale (PDSS). Video-polysomnography (vPSG) was performed in 14 HD mutation carriers (7 asymptomatic) and 14 matched controls.

Results: Poor subjective sleep quality (PSQI≥6) was reported by 34% of HD mutation carriers versus 13% of controls (p=0.005). Excessive daytime sleepiness (ESS>10) was apparent in 2.6% of HD mutation carriers and 5% of controls (p=1). Above cut-off RBDSQ (≥5) and PDSS (≥15) scores were more frequent in HD mutation carriers with prevalences of 32% versus 13% and 16% versus 4%, respectively (p=0.013 and p=0.019). vPSG revealed a higher periodic limb movement index during wakefulness (PLMW) index and a lower proportion of ‘slow-wave-sleep’ (N3) in HD mutation carriers. Other vPSG-derived sleep parameters were comparable between groups. Substantial agreement between poor subjective sleep quality and reduced sleep efficiency on vPSG with lower sleep efficiency was observed in HD mutation carriers (κ=0.69). Poor subjective sleep quality was independently associated with worse Symbol Digit Modalities Test (SDMT) performance (ANCOVA, p=0.014, partial η²=0.168) after controlling for sex and CAG-Age-Product score. After adjustment for sex, age, and disease duration, higher sleep efficiency was independently associated with better SDMT performance (β=0.375, p=0.036).

Conclusion: Sleep disturbances are common in HD mutation carriers and are characterized by impaired subjective sleep quality, increased PLMWs, and reduced slow wave sleep despite largely preserved overall sleep macro-architecture. Impaired subjective sleep quality and lower sleep efficiency were independently associated with worse SDMT performance. These findings suggest that sleep abnormalities are a clinically relevant feature of HD and may contribute to cognitive dysfunction beyond disease burden.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/sleep-disturbances-in-huntingtons-disease-a-cross-sectional-study/